ClinVar Miner

Submissions for variant NM_015662.3(IFT172):c.4925_4928del (p.Arg1642fs)

dbSNP: rs587777078
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV002505011 SCV002813897 pathogenic Short-rib thoracic dysplasia 10 with or without polydactyly; Retinitis pigmentosa 71; Bardet-Biedl syndrome 20 2024-05-25 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002514456 SCV003524157 pathogenic Short-rib thoracic dysplasia 10 with or without polydactyly; Retinitis pigmentosa 71 2024-12-04 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg1642Lysfs*32) in the IFT172 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in IFT172 are known to be pathogenic (PMID: 24140113). This variant is present in population databases (rs587777078, gnomAD 0.01%). This premature translational stop signal has been observed in individual(s) with Mainzer-Saldino syndrome (PMID: 24140113). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000083269 SCV000115349 pathogenic Short-rib thoracic dysplasia 10 without polydactyly 2013-11-07 no assertion criteria provided literature only

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